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congenital fibrosis of the extraocular muscles 3A
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
- Super Class
- autosomal dominant disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081017
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13509 | Tubulin beta-3 chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009916 | Anisocoria |
| HP:0000646 | Amblyopia |
| HP:0002194 | Delayed gross motor development |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0001252 | Hypotonia |
| HP:0012241 | Levator palpebrae superioris atrophy |
| HP:0002013 | Vomiting |
| HP:0000577 | Exotropia |
| HP:0007831 | Nonprogressive restrictive external ophthalmoplegia |
